Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.
Lieke H H MeeterTania F GendronAna C SiasLize C JiskootSilvia P RussoLaura Donker KaatJanne M PapmaJessica L PanmanEmma L van der EndeElise G DopperSanne FranzenCaroline GraffAdam L BoxerHoward J RosenRaquel Sanchez-ValleDaniela GalimbertiYolande A L PijnenburgLuisa BenussiRoberta GhidoniBarbara BorroniRobert LaforceMarta Del Campo MilanCharlotte E TeunissenRick van MinkelenJulio C RojasGiovanni CoppolaDan H GeschwindRosa RademakersAnna M KarydasLinn ÖijerstedtElio ScarpiniGiuliano BinettiAlessandro PadovaniDavid M CashKatrina M DickMartina BocchettaBruce L MillerJonathan D RohrerLeonard PetrucelliJohn C van SwietenSuzee E LeePublished in: Annals of clinical and translational neurology (2018)
This study of C9orf72 expansion carriers reveals that: (1) poly(GP) levels discriminate presymptomatic and symptomatic expansion carriers from noncarriers, but are not associated with indicators of neurodegeneration; and (2) NfL levels are associated with grey matter atrophy, disease severity, and shorter survival. Together, poly(GP) and NfL show promise as complementary biomarkers for clinical trials for C9orf72-associated frontotemporal dementia, with poly(GP) as a potential marker for target engagement and NfL as a marker of disease activity and progression.
Keyphrases
- disease activity
- clinical trial
- rheumatoid arthritis
- systemic lupus erythematosus
- white matter
- ankylosing spondylitis
- traumatic brain injury
- randomized controlled trial
- juvenile idiopathic arthritis
- social media
- big data
- multiple sclerosis
- cerebrospinal fluid
- human health
- risk assessment
- deep learning
- climate change